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Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report
ConclusionThe dominance of hyperkinetic movements in the clinical scenario and the finding of a point mutation A3251G inMT-TL1 gene make this a rare presentation.
Source: Journal of Medical Case Reports - March 5, 2019 Category: General Medicine Source Type: research

Indian Ginseng (Withania somnifera) supplementation ameliorates oxidative stress and mitochondrial dysfunctions in experimental model of stroke
AbstractStroke is an increasingly prevalent clinical condition and second leading cause of death globally. The present study evaluated the therapeutic potential ofIndian Ginseng, also known asWithania somnifera (WS), supplementation on middle cerebral artery occlusion (MCAO) induced mitochondrial dysfunctions in experimental model of ischemic stroke. Stroke was induced in animals by occluding the middle cerebral artery, followed by reperfusion injury. Ischemia reperfusion injury resulted in increased oxidative stress indicated by increased reactive oxygen species and protein carbonyl levels; compromised antioxidant system;...
Source: Metabolic Brain Disease - April 18, 2018 Category: Neurology Source Type: research

Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes
Publication date: Available online 16 August 2019Source: MitochondrionAuthor(s): Arumugam Paramasivam, Challa Venkatapathi, Gampa Sandeep, Angamuthu K. Meena, Megha S. Uppin, Swati Mohapatra, Robert D.S. Pitceathly, Kumarasamy ThangarajAbstractMutations in the mitochondrial DNA maintenance gene POLG (DNA Polymerase Gamma, Catalytic Subunit), encoding mitochondrial DNA polymerase gamma (pol γ), are associated with an extremely broad phenotypic spectrum. We identified homozygous POLG c.1879C>T; p.R627W mutations in two siblings from a consanguineous South Asian family following targeted resequencing of 75 nuclear-encoded mi...
Source: Mitochondrion - August 17, 2019 Category: Biochemistry Source Type: research

Is There any Link between Madelung Disease and Ischemic Stroke ? A Case Report
Clara Lunardon, Elisa Zavattaro, Lorenzo Coppo, Paola Savoia, Enrico Colombo, Cristoforo Comi, Roberto CantelloNeurology India 2022 70(5):2166-2168 A 70-year-old man presented to the Emergency Department with left hemiparesis, slurred speech, and elevated blood pressure. A brain computed tomography scan revealed an ischemic lesion in the right frontal and parietal lobes. At clinical examination bilateral pseudo gynecomastia was detected together with the presence of multiple elastic, adipose bulging masses on the neck, trunk, and upper limbs. A type I–II Lanois–Bensaude syndrome was diagnosed. Ul...
Source: Neurology India - October 21, 2022 Category: Neurology Authors: Clara Lunardon Elisa Zavattaro Lorenzo Coppo Paola Savoia Enrico Colombo Cristoforo Comi Roberto Cantello Source Type: research

Iron Metabolism and Brain Development in Premature Infants
Yafeng Wang1,2,3, Yanan Wu2, Tao Li1,2,3, Xiaoyang Wang2,4 and Changlian Zhu2,3* 1Department of Neonatology (NICU), Children’s Hospital Affiliated Zhengzhou University, Zhengzhou, China 2Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China 3Department of Clinical Neuroscience, Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden 4Department of Physiology, Sahlgrenska Academy, Institute of Neuroscience and Physiology, University of Got...
Source: Frontiers in Physiology - April 24, 2019 Category: Physiology Source Type: research

First person - Mohd. Salman FIRST PERSON
ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Mohd. Salman is first author on ‘Nrf2/HO-1 mediates the neuroprotective effects of pramipexole by attenuating oxidative damage and mitochondrial perturbation after traumatic brain injury in rats’, published in DMM. Mohd. is a PhD student in the lab of Prof. Suhel Parvez at Jamia Hamdard, New Delhi, India, investigating the cellular and molecular mechanisms involved in traumatic brain injury, ische...
Source: DMM Disease Models and Mechanisms - August 18, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research

Correction to: Indian ginseng (Withania somnifera) supplementation ameliorates oxidative stress and mitochondrial dysfunctions in experimental model of stroke
Source: Metabolic Brain Disease - June 1, 2023 Category: Neurology Source Type: research